家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_007294.4(BRCA1):c.81-2del	BRCA1	Pathogenic	17	41267798	41267798	CT	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):200-2&base_change=del A,ClinGen:CA003913
single nucleotide variant	NM_007294.4(BRCA1):c.81-9C>G	BRCA1	Pathogenic	17	41267805	41267805	G	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):200-9&base_change=C to G,ClinGen:CA003917
Duplication	NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs)	BRCA1	Pathogenic	17	41246723	41246724	G	GCCACATGGCTC	reviewed by expert panel	ClinGen:CA026483
Duplication	NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)	BRCA1	Pathogenic	17	41246723	41246724	G	GCCACATGGCT	reviewed by expert panel	ClinGen:CA003921,OMIM:113705.0029
single nucleotide variant	NM_007294.4(BRCA1):c.822T>A (p.Cys274Ter)	BRCA1	Pathogenic	17	41246726	41246726	A	T	reviewed by expert panel	ClinGen:CA003919
Deletion	NM_007294.4(BRCA1):c.835del (p.His279fs)	BRCA1	Pathogenic	17	41246713	41246713	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):954&base_change=del C,ClinGen:CA003929
Deletion	NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)	BRCA1	Pathogenic	17	41267793	41267794	CCA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):202&base_change=del TG,ClinGen:CA003931
Duplication	NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)	BRCA1	Pathogenic	17	41246697	41246698	T	TGTAATGA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):969&base_change=ins TCATTAC,ClinGen:CA003939
single nucleotide variant	NM_007294.4(BRCA1):c.848T>A (p.Leu283Ter)	BRCA1	Pathogenic	17	41246700	41246700	A	T	reviewed by expert panel	ClinGen:CA003937
single nucleotide variant	NM_007294.4(BRCA1):c.848T>G (p.Leu283Ter)	BRCA1	Pathogenic	17	41246700	41246700	A	C	reviewed by expert panel	ClinGen:CA003938